Nephrotic syndrome type 6 (NPHS6) is a form of nephrotic syndrome, clinically characterized by severe proteinuria, hypoalbuminemia caused complications, hyperlipidemia and edema. Renal biopsies show unspecific histological changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some people affected have a steroid - resistant form. The disease progresses to end - stage renal failure.

This process is due to homozygous mutations in the gene PTPRO, located on the short arm of chromosome 12 (12p13.3-p13.2) encoding a receptor protein subtype family member of the R3 receptor tyrosine phosphatases. These proteins are localized in the apical surface of polarized cells may have specific functions and tissue through-Src kinase activation. This gene contains two different promoters, and were observed transcript variants encoding multiple isoforms alternately connected. The encoded proteins may have multiple specific isoform specific functions of tissues, including the regulation of the production and activity of osteoclasts, inhibiting cell proliferation and facilitating apoptosis. This gene is a tumor suppressor, showing a decreased expression of the gene in various cancers.

This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.

Tests in IVAMI: in IVAMI perform detection of mutations associated with nephrotic syndrome type 6, by complete PCR amplification of the exons of the gene PTPRO, and subsequent sequencing.

Samples recommended:EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).